CAJ | 학술논문

目的：了解Fabry病中不同性别患者α‐半乳糖苷酶A （α‐Gal A ）活性情况。方法选取一个Fabry病家系的8例患者和13例健康者，应用干血片法测定经过GLA基因检测确诊的Fabry病患者和健康者α‐Gal A活性并进行比较。结果男性患者的α‐Gal A活性[（8．66±2．15）×10－15 mol／（d · spot）]为健康对照者[（188．31±42．23）×10－15mol／（d·spot）]的4．6％，女性患者[（149．93±46．56）×10－15mol／（d·spot）]则为健康对照者的79．62％。男性半合子患者酶活性明显下降（ P＜0．05）。α‐Gal A活性检测对男性半合子的灵敏度高于女性杂合子。结论α‐半乳糖苷A活性下降程度存在性别差异，男性半合子Fabry病患者酶活性明显下降。
목적：료해Fabry병중불동성별환자α‐반유당감매A （α‐Gal A ）활성정황。방법선취일개Fabry병가계적8례환자화13례건강자，응용간혈편법측정경과GLA기인검측학진적Fabry병환자화건강자α‐Gal A활성병진행비교。결과남성환자적α‐Gal A활성[（8．66±2．15）×10－15 mol／（d · spot）]위건강대조자[（188．31±42．23）×10－15mol／（d·spot）]적4．6％，녀성환자[（149．93±46．56）×10－15mol／（d·spot）]칙위건강대조자적79．62％。남성반합자환자매활성명현하강（ P＜0．05）。α‐Gal A활성검측대남성반합자적령민도고우녀성잡합자。결론α‐반유당감A활성하강정도존재성별차이，남성반합자Fabry병환자매활성명현하강。
Objective To investigate the activity of α‐galactosidase A(α‐Gal A) in different genders of the pa‐tients with Fabry disease .Methods 8 patients with Fabry disease GLA gene detection diagnosed by and 13 healthy members in a family were selected and detected theα‐Gal A activity by using the dried blood spots method .Results Theα‐GalAactivityinthemalepatientswithFabrydiseasewas[(8.66±2.15)×10-15mol/(d·spot)],whichwas only 4 .6% of [(188 .31 ± 42 .23) × 10-15 mol/(d · spot)] in the healthy controls ,whereas female patients was 79 . 62% of [(149.93±46.56)×10-15mol/(d·spot)]inthehealthycontrols.Theα‐GalAactivityinhemizygousmale patients was significantly lowered(P<0 .05) ,theα‐Gal A activity detection had higher sensitivity in male hemizygote than female heterozygous .Conclusion The gender difference exists in the decreased degree of α‐Gal A activity .The enzymatic activity is significant reduced in male patients with hemizygotie Fabry disease .